Linked Data
gnomAD v4:
17-41586538-GCCAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586540_41586543del , CM000679.2:g.41586540_41586543del | GRCh38 |
| NC_000017.10:g.39742792_39742795del , CM000679.1:g.39742792_39742795del | GRCh37 |
| NC_000017.9:g.36996318_36996321del | NCBI36 |
| NG_008624.1:g.5354_5357del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.293_296del MANE Select | ENSP00000167586.6:p.Gly98AlafsTer19 | |
| ENST00000167586.6:c.293_296del | ENSP00000167586.6:p.Gly98AlafsTer19 | |
| NM_000526.4:c.293_296del | NP_000517.2:p.Gly98AlafsTer19 | |
| NM_000526.5:c.293_296del MANE Select | NP_000517.3:p.Gly98AlafsTer19 |